SNP Links for Protein (Select 91208428) - SNP

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:122013555 (GRCh38)
7:121653609 (GRCh37)
Canonical SPDI:: NC_000007.14:122013554:T:C
Gene:: PTPRZ1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000342/1 (KOREAN)
HGVS:: NC_000007.14:g.122013555T>C, NC_000007.13:g.121653609T>C, NG_023266.1:g.145451T>C, NM_002851.3:c.4509T>C, NM_002851.2:c.4509T>C, NM_001369396.1:c.4467T>C, NM_001369395.1:c.4509T>C

Select item 148623554014.

rs1486235540 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:121873513 (GRCh38)
7:121513567 (GRCh37)
Canonical SPDI:: NC_000007.14:121873512:A:G
Gene:: PTPRZ1 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.121873513A>G, NC_000007.13:g.121513567A>G, NG_023266.1:g.5409A>G, NM_002851.3:c.14A>G, NM_002851.2:c.14A>G, NM_001206838.2:c.14A>G, NM_001206838.1:c.14A>G, NM_001206839.2:c.14A>G, NM_001206839.1:c.14A>G, NM_001369396.1:c.-132A>G, NM_001369395.1:c.14A>G, NP_002842.2:p.Lys5Arg, NP_001193767.1:p.Lys5Arg, NP_001193768.1:p.Lys5Arg, NP_001356324.1:p.Lys5Arg

Select item 148452740215.

rs1484527402 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:121928189 (GRCh38)
7:121568243 (GRCh37)
Canonical SPDI:: NC_000007.14:121928188:A:G
Gene:: PTPRZ1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.121928189A>G, NC_000007.13:g.121568243A>G, NG_023266.1:g.60085A>G, NM_002851.3:c.92A>G, NM_002851.2:c.92A>G, NM_001206838.2:c.92A>G, NM_001206838.1:c.92A>G, NM_001206839.2:c.92A>G, NM_001206839.1:c.92A>G, NM_001369396.1:c.50A>G, NM_001369395.1:c.92A>G, NP_002842.2:p.Lys31Arg, NP_001193767.1:p.Lys31Arg, NP_001193768.1:p.Lys31Arg, NP_001356325.1:p.Lys17Arg, NP_001356324.1:p.Lys31Arg

Select item 148445268016.

rs1484452680 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:122042615 (GRCh38)
7:121682669 (GRCh37)
Canonical SPDI:: NC_000007.14:122042614:G:T
Gene:: PTPRZ1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.122042615G>T, NC_000007.13:g.121682669G>T, NG_023266.1:g.174511G>T, NM_002851.3:c.5809G>T, NM_002851.2:c.5809G>T, NM_001206838.2:c.3229G>T, NM_001206838.1:c.3229G>T, NM_001206839.2:c.3208G>T, NM_001206839.1:c.3208G>T, NM_001369396.1:c.5767G>T, NM_001369395.1:c.5788G>T, NP_002842.2:p.Val1937Phe, NP_001193767.1:p.Val1077Phe, NP_001193768.1:p.Val1070Phe, NP_001356325.1:p.Val1923Phe, NP_001356324.1:p.Val1930Phe

Select item 148442640017.

rs1484426400 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:122034362 (GRCh38)
7:121674416 (GRCh37)
Canonical SPDI:: NC_000007.14:122034361:C:G,NC_000007.14:122034361:C:T
Gene:: PTPRZ1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.122034362C>G, NC_000007.14:g.122034362C>T, NC_000007.13:g.121674416C>G, NC_000007.13:g.121674416C>T, NG_023266.1:g.166258C>G, NG_023266.1:g.166258C>T, NM_002851.3:c.5268C>G, NM_002851.3:c.5268C>T, NM_002851.2:c.5268C>G, NM_002851.2:c.5268C>T, NM_001206838.2:c.2688C>G, NM_001206838.2:c.2688C>T, NM_001206838.1:c.2688C>G, NM_001206838.1:c.2688C>T, NM_001206839.2:c.2667C>G, NM_001206839.2:c.2667C>T, NM_001206839.1:c.2667C>G, NM_001206839.1:c.2667C>T, NM_001369396.1:c.5226C>G, NM_001369396.1:c.5226C>T, NM_001369395.1:c.5247C>G, NM_001369395.1:c.5247C>T, NP_002842.2:p.Tyr1756Ter, NP_001193767.1:p.Tyr896Ter, NP_001193768.1:p.Tyr889Ter, NP_001356325.1:p.Tyr1742Ter, NP_001356324.1:p.Tyr1749Ter

Select item 148396237318.

rs1483962373 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:122061206 (GRCh38)
7:121701260 (GRCh37)
Canonical SPDI:: NC_000007.14:122061205:G:C
Gene:: PTPRZ1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000007.14:g.122061206G>C, NC_000007.13:g.121701260G>C, NG_023266.1:g.193102G>C, NM_002851.3:c.6934G>C, NM_002851.2:c.6934G>C, NM_001206838.2:c.4354G>C, NM_001206838.1:c.4354G>C, NM_001206839.2:c.4333G>C, NM_001206839.1:c.4333G>C, NM_001369396.1:c.6892G>C, NM_001369395.1:c.6913G>C, NP_002842.2:p.Glu2312Gln, NP_001193767.1:p.Glu1452Gln, NP_001193768.1:p.Glu1445Gln, NP_001356325.1:p.Glu2298Gln, NP_001356324.1:p.Glu2305Gln

Select item 148358046919.

rs1483580469 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:122013390 (GRCh38)
7:121653444 (GRCh37)
Canonical SPDI:: NC_000007.14:122013389:T:C
Gene:: PTPRZ1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000546/1 (Korea1K)
HGVS:: NC_000007.14:g.122013390T>C, NC_000007.13:g.121653444T>C, NG_023266.1:g.145286T>C, NM_002851.3:c.4344T>C, NM_002851.2:c.4344T>C, NM_001369396.1:c.4302T>C, NM_001369395.1:c.4344T>C

Select item 148332120420.

rs1483321204 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:122010518 (GRCh38)
7:121650572 (GRCh37)
Canonical SPDI:: NC_000007.14:122010517:G:A
Gene:: PTPRZ1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.122010518G>A, NC_000007.13:g.121650572G>A, NG_023266.1:g.142414G>A, NM_002851.3:c.1472G>A, NM_002851.2:c.1472G>A, NM_001206838.2:c.1472G>A, NM_001206838.1:c.1472G>A, NM_001206839.2:c.1472G>A, NM_001206839.1:c.1472G>A, NM_001369396.1:c.1430G>A, NM_001369395.1:c.1472G>A, NP_002842.2:p.Gly491Glu, NP_001193767.1:p.Gly491Glu, NP_001193768.1:p.Gly491Glu, NP_001356325.1:p.Gly477Glu, NP_001356324.1:p.Gly491Glu

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